Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376590.9, ENST00000641407.1, ENST00000376592.6, ENST00000376585.6, ENST00000376583.7, ENST00000641820.1, ENST00000423400.7 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland.
Pubmed
23626689
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.10687274533595
Year of publication
2013
Drugs